# GREAT version 4.0.4 Species assembly: hg38 Association rule: Basal+extension: 5000 bp upstream, 1000 bp downstream, 1000000 bp max extension, curated regulatory domains included # Ontology Term Name Binom Rank Binom Raw P-Value Binom FDR Q-Val Binom Fold Enrichment Binom Observed Region Hits Binom Region Set Coverage Hyper Rank Hyper FDR Q-Val Hyper Fold Enrichment Hyper Observed Gene Hits Hyper Total Genes Hyper Gene Set Coverage GO Biological Process positive regulation of epithelial cell proliferation involved in lung morphogenesis 537 0.00001265794 0.00031017845895716945 2.711198 25 0.003631082 799 0.03719724854067585 2.760106 6 6 0.0008819638 GO Biological Process thymic T cell selection 569 0.00001828991 0.00042298229471001754 2.198855 36 0.005228758 684 0.01920693603874269 2.033762 14 19 0.002057916 GO Biological Process regulation of ARF protein signal transduction 581 0.00002027938 0.00045930526922547337 2.522727 27 0.003921569 667 0.016926849811394303 2.110669 13 17 0.001910922 GO Biological Process regulation of branching involved in prostate gland morphogenesis 615 0.0000289021 0.0006184109494308943 2.340389 30 0.004357298 655 0.016430325390992366 2.760106 7 7 0.001028958 GO Biological Process branching involved in prostate gland morphogenesis 634 0.00003753378 0.0007790331404100946 2.236651 32 0.004647785 643 0.014791190788180404 2.484095 9 10 0.001322946 GO Biological Process regulation of vascular associated smooth muscle cell migration 667 0.00005245613 0.0010348878780659671 2.535043 24 0.003485839 530 0.0051015481564150944 2.365805 12 14 0.001763928 GO Biological Process prostate glandular acinus development 917 0.000308253 0.004423447357688113 2.065059 29 0.004212055 844 0.041882945409952604 2.258268 9 11 0.001322946 GO Biological Process Golgi ribbon formation 971 0.0004203547 0.005696650357672502 2.619095 17 0.002469136 844 0.041882945409952604 2.258268 9 11 0.001322946 GO Biological Process trophoblast giant cell differentiation 977 0.0004279643 0.005764157854350051 2.051307 28 0.004066812 704 0.021593937691761364 2.300088 10 12 0.00146994 GO Biological Process regulation of translational termination 994 0.0004821051 0.0063823149003018114 4.548972 8 0.001161946 558 0.006983004934767025 2.760106 8 8 0.001175952 GO Biological Process positive regulation of SMAD protein import into nucleus 997 0.0004878114 0.006438425489067202 2.171925 24 0.003485839 704 0.021593937691761364 2.300088 10 12 0.00146994 GO Biological Process positive regulation of vascular associated smooth muscle cell migration 1190 0.00133238 0.014733435647058823 2.511579 15 0.002178649 844 0.041882945409952604 2.258268 9 11 0.001322946 GO Molecular Function phosphatidylinositol-3-phosphatase activity 71 7.010246e-7 0.000041686279735211266 3.048276 27 0.003921569 96 0.030180351291666668 2.208085 12 15 0.001763928 GO Molecular Function I-SMAD binding 90 0.000008022614 0.00037634973675555554 2.352795 34 0.004938272 83 0.014568891007228914 2.509187 10 11 0.00146994 GO Molecular Function ARF guanyl-nucleotide exchange factor activity 104 0.00001564208 0.0006350082861538461 2.343564 32 0.004647785 78 0.012092327630769232 2.102938 16 21 0.002351904 Human Phenotype X-linked recessive inheritance 2 2.727195e-19 9.0992861175e-16 2.017701 198 0.02875817 5 8.1291366836e-7 1.698527 88 143 0.01293547 Human Phenotype Abnormality of the distal phalanx of the thumb 195 0.000005715302 0.00019558056536410256 2.325126 36 0.005228758 176 0.03253026078068182 2.110669 13 17 0.001910922 Mouse Phenotype Single KO transmission ratio distortion 54 8.905211e-11 1.5100929097592593e-8 2.660379 58 0.00842411 248 0.0010166496480241934 2.123158 20 26 0.002939879 Mouse Phenotype Single KO decreased gamma-delta T cell number 65 2.635895e-10 3.713367771538462e-8 2.293422 73 0.01060276 410 0.007142993786097561 1.689861 30 49 0.004409819 Mouse Phenotype Single KO decreased molar number 107 1.774987e-8 0.000001519023921401869 3.316843 31 0.004502542 829 0.049373682424607955 2.415093 7 8 0.001028958 Mouse Phenotype Single KO abnormal ureter development 173 6.756952e-7 0.00003576497656878613 2.261762 46 0.006681191 393 0.006673397917557252 2.509187 10 11 0.00146994 Mouse Phenotype Single KO impaired exercise endurance 189 0.000001203908 0.000058329024105820106 2.079872 53 0.007697894 629 0.02567340374244833 1.64292 25 42 0.003674849 Mouse Phenotype Single KO decreased cranium height 196 0.000001450552 0.00006776890134693877 2.117553 50 0.007262164 813 0.04778185674046741 1.737844 17 27 0.002498898 Mouse Phenotype Single KO abnormal ilium morphology 296 0.00001057462 0.0003271344437162162 2.320781 34 0.004938272 510 0.012976998757647058 2.484095 9 10 0.001322946 Mouse Phenotype Single KO premature suture closure 377 0.00003344503 0.000812350503209549 2.002141 42 0.006100218 718 0.03425985696100278 2.258268 9 11 0.001322946 Mouse Phenotype Single KO abnormal negative T cell selection 414 0.00004466935 0.0009880126520531401 2.453617 26 0.003776325 763 0.0404752961480996 2.123158 10 13 0.00146994 Mouse Phenotype Single KO small basisphenoid bone 557 0.000189356 0.0031129854434470377 2.017342 33 0.004793028 763 0.0404752961480996 2.123158 10 13 0.00146994 Mouse Phenotype Single KO abnormal third pharyngeal arch artery morphology 724 0.0005541342 0.007008573024033149 2.113713 25 0.003631082 574 0.01842989826655052 2.300088 10 12 0.00146994 Mouse Phenotype Single KO abnormal sebaceous lipid secretion 780 0.0007860441 0.009227956184230768 3.487578 10 0.001452433 829 0.049373682424607955 2.415093 7 8 0.001028958 Mouse Phenotype Single KO abnormal T cell clonal deletion 874 0.001370113 0.014354833799771167 2.602686 14 0.002033406 679 0.03045917589396171 2.760106 6 6 0.0008819638 Mouse Phenotype Single KO lethality during fetal growth through weaning, complete penetrance 876 0.001381467 0.014440745797945206 2.169741 20 0.002904866 718 0.03425985696100278 2.258268 9 11 0.001322946 Mouse Phenotype Single KO liver hyperplasia 1045 0.003159991 0.027689988121531103 2.289558 15 0.002178649 718 0.03425985696100278 2.258268 9 11 0.001322946 Mouse Phenotype Single KO decreased abdominal fat pad weight 1080 0.003677112 0.031177143133333335 2.074502 18 0.002614379 638 0.025940704550156738 2.453427 8 9 0.001175952 Mouse Phenotype transmission ratio distortion 130 5.783765e-10 4.2537367050000004e-8 2.399669 64 0.00929557 386 0.0006528283000259067 1.939534 26 37 0.003821843 Mouse Phenotype colon polyps 160 3.857803e-9 2.3052784051874996e-7 3.744107 29 0.004212055 1121 0.032954745628902764 2.024078 11 15 0.001616934 Mouse Phenotype parakeratosis 163 4.214807e-9 2.4722558114723924e-7 2.55538 51 0.007407407 1110 0.03217917345405406 1.672791 20 33 0.002939879 Mouse Phenotype increased transitional stage B cell number 192 1.198067e-8 5.9659992640625e-7 2.297029 59 0.008569354 563 0.003363014670159858 1.840071 24 36 0.003527855 Mouse Phenotype abnormal ureter smooth muscle morphology 217 3.279997e-8 0.0000014451636551612905 2.392183 51 0.007407407 746 0.009263086417158176 2.484095 9 10 0.001322946 Mouse Phenotype increased squamous cell carcinoma incidence 249 8.447715e-8 0.0000032437190006024093 2.065266 66 0.009586057 853 0.014487728377491208 1.592369 30 52 0.004409819 Mouse Phenotype abnormal zigzag hair morphology 256 1.039737e-7 0.000003883174006640625 2.040514 67 0.0097313 1135 0.03447518858061673 1.713169 18 29 0.002645892 Mouse Phenotype inner ear cysts 291 3.514827e-7 0.00001154819963814433 2.776165 33 0.004793028 1265 0.047138624753359684 2.760106 5 5 0.0007349699 Mouse Phenotype aerophagia 356 0.000001925686 0.00005171765125280899 2.885194 27 0.003921569 968 0.022308104479338845 2.760106 6 6 0.0008819638 Mouse Phenotype common ventricle 360 0.000002037486 0.00005411223235 2.646672 31 0.004502542 939 0.02099955028434505 1.99341 13 18 0.001910922 Mouse Phenotype conotruncal ridge hypoplasia 388 0.000002729734 0.00006726542982989691 2.312427 39 0.005664488 610 0.004489105798032787 2.509187 10 11 0.00146994 Mouse Phenotype intestinal ulcer 393 0.00000288008 0.00007006728977099236 2.138707 46 0.006681191 1104 0.03068447064130435 1.656064 21 35 0.003086873 Mouse Phenotype small basisphenoid bone 466 0.000007452464 0.00015290345129613734 2.186345 40 0.005809731 770 0.01065348456077922 2.110669 13 17 0.001910922 Mouse Phenotype abnormal sebaceous lipid secretion 482 0.000009360052 0.00018566692359336102 3.789842 16 0.002323893 1037 0.024767452414657665 2.258268 9 11 0.001322946 Mouse Phenotype abnormal ilium morphology 490 0.00001057462 0.00020633457514285713 2.320781 34 0.004938272 746 0.009263086417158176 2.484095 9 10 0.001322946 Mouse Phenotype thin ventricle myocardium compact layer 537 0.00002005637 0.0003570930234078212 2.069234 41 0.005954975 794 0.012021927946473552 2.033762 14 19 0.002057916 Mouse Phenotype increased platelet aggregation 556 0.00002447634 0.00042089619917266185 2.494719 27 0.003921569 822 0.013437334142335765 2.300088 10 12 0.00146994 Mouse Phenotype premature suture closure 563 0.00002658582 0.00045148672294849026 2.004227 43 0.006245461 1088 0.02963710519577206 2.123158 10 13 0.00146994 Mouse Phenotype abnormal stomach smooth muscle circular layer morphology 626 0.00005132032 0.000783823609456869 2.599592 23 0.003340595 1265 0.047138624753359684 2.760106 5 5 0.0007349699 Mouse Phenotype enlarged allantois 662 0.0000700195 0.001011263503776435 2.055381 36 0.005228758 939 0.02099955028434505 1.99341 13 18 0.001910922